Canonical Allele Identifier: CA2620819157

Gene: MVK

Linked Data

• gnomAD v4: 12-109596869-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596869T>A , CM000674.2:g.109596869T>A	GRCh38
NC_000012.11:g.110034674T>A , CM000674.1:g.110034674T>A	GRCh37
NC_000012.10:g.108519057T>A	NCBI36
NG_007702.1:g.28175T>A , LRG_156:g.28175T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.*292T>A	ENSP00000439134.1:n.*292T>A
ENST00000546277.6:c.*292T>A	ENSP00000438153.2:n.*292T>A
ENST00000636529.2:n.1122T>A
ENST00000697195.1:c.*1247T>A	ENSP00000513181.1:n.*1247T>A
ENST00000697196.1:c.*656T>A	ENSP00000513182.1:n.*656T>A
ENST00000697197.1:n.3512T>A
ENST00000697198.1:n.1867T>A
ENST00000228510.8:c.*292T>A MANE Select	ENSP00000228510.3:n.*292T>A
ENST00000636529.1:c.1108T>A
ENST00000636996.1:c.1331T>A
ENST00000228510.7:c.*292T>A	ENSP00000228510.3:n.*292T>A
ENST00000392727.7:c.*292T>A	ENSP00000376487.3:n.*292T>A
ENST00000447878.6:c.*930T>A	ENSP00000415555.2:n.*930T>A
ENST00000539575.4:c.*292T>A	ENSP00000443551.2:n.*292T>A
ENST00000540353.1:n.3716T>A
ENST00000625889.2:c.*292T>A	ENSP00000486846.1:n.*292T>A
ENST00000629016.2:c.*930T>A	ENSP00000486804.1:n.*930T>A
NM_000431.3:c.*292T>A	NP_000422.1:n.*292T>A
NM_001114185.2:c.*292T>A	NP_001107657.1:n.*292T>A
NM_001301182.1:c.*292T>A	NP_001288111.1:n.*292T>A
XM_011538372.1:c.*292T>A	XP_011536674.1:n.*292T>A
XM_017019313.2:c.*292T>A	XP_016874802.1:n.*292T>A
XM_017019314.1:c.*292T>A	XP_016874803.1:n.*292T>A
NM_000431.4:c.*292T>A MANE Select	NP_000422.1:n.*292T>A
NM_001114185.3:c.*292T>A	NP_001107657.1:n.*292T>A
NM_001301182.2:c.*292T>A	NP_001288111.1:n.*292T>A